A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2469485



Internal ID17812003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:97871380..97873494hg38UCSC Ensembl
Innerchr7:97500692..97502806hg19UCSC Ensembl
Innerchr7:97338628..97340742hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg382115
hg192115
hg182115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv981552
Supporting Variants
SamplesHGDP00927
Known GenesASNS
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2469485
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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